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Daughter Diagnosed
Old 04-26-2013, 07:54 PM
  #1

Our daughter has been diagnosed with MTHFR (I know that looks odd, but it's an abbrevation for a very long name), which is a genetic mutation that inhibits absorption of folic acid, while adding to much "clotting power" to the patient's blood. The test was done by her fertility doctor recently. He believes the MTHFR mutation is the cause of her past miscarriages.

Frankly, I've never heard of this. There's no link on Mayo Clinic or Web MD. There are some links, one by a very laid back physician, but most seem less that professional/research based.

If you are familiar with this problem, I welcome your contribution to our growing information bank.

Thanks!




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Old 04-26-2013, 08:49 PM
  #2

Oh, my. At first I thought MTHFR was an abbreviation for... something else.

I'm sorry to hear about this problem. I hope that there are some good treatments.
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Old 04-26-2013, 10:18 PM
  #3

I have never heard of it either. Strange that there's not a lot of info, maybe it's not well documented by research. I hope whatever is going on, it can be circumvented if she desires a pregnancy.

(I also thought it was short for something not very nice. That's an unfortunate abbreviation )
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Old 04-26-2013, 10:52 PM
  #4

Is this the same condition?

http://ghr.nlm.nih.gov/gene/MTHFR

http://en.wikipedia.org/wiki/Methyle...folate_pathway

http://mthfr.net/

http://www.mthfrsupport.com/

Wikipedia didn't seem very helpful, and I didn't look into the support groups *at all,* but the NIH has a lot of useful information.
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My dear friend!
Old 04-27-2013, 03:22 AM
  #5

was diagnosed with this after trouble carrying a baby to term - 3 horrible miscarraiges later, they got this diagnosis. With treatments, she JUST had her little one 3 weeks ago. He is perfect! It meant certain things they needed to monitor through the pregnancy, medication that won't harm the baby (maybe shots?) and was all worth it!

Best advice was to find a specialist who has a successful patient history with lots of adorable babies!


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Old 04-27-2013, 04:26 AM
  #6

I have heard of it. There is also a link between having that mutation and having a child with neural defects. I am not saying it is a guarantee to have a child with a neural tube defect. She absolutely could have a perfectly healthy pregnancy and baby. She needs to take a very high amount of folic acid for a few months before even getting pregnant. I am sure her fertility doctor went over that with her. If I were in her shoes and did become pregnant I would get an amnio asap to check for any potential defects.

Also, here is a link to a support group for moms with this mutation. They will have a lot more advice and help than we can give you.

http://community.babycenter.com/grou...mthfr_mutation
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Clotting disorder
Old 04-27-2013, 04:36 AM
  #7

My best friend has some kind of clotting disorder...she said something about have 5 out of the 7 different kinds but I do know it is genetic. I'm not sure which one it is specifically. She has a healthy almost 3 year old after doing twice daily Lovenox shots during her pregnancy. A miscarriage at 25 weeks led to her diagnosis.
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Clotting Disorder
Old 04-27-2013, 06:04 AM
  #8

My niece has a clotting disorder - not the same thing exactly. Apparently my sister does too and it's been suggested that the remaining sisters get a screening for it. My sister had a pulmonary embolism so we have to be careful when flying.

My niece had to take the blood thinner shots for her pregnancy too. She has two healthy twins, but only after several miscarriages.

Good luck to your daughter. I hope she finds a physician that can help her conceive and carry a pregnancy to term.

Prayers for all!
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See a specialist
Old 04-27-2013, 06:55 AM
  #9

My cousin was diagnosed after a family member had a related health scare. Fortunately, she had not had any ill effects yet. She married and has had two beautiful children under the care of a specialist who treats the condition and an OB who works with high risk pregnancies. It is possible.
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I have this!
Old 04-27-2013, 07:42 AM
  #10

I have had repeated miscarriages and was diagnosed with this.

When I am trying to conceive I must take about four times the recommended dosage of folic acid, ideally at least a month before I try and conceive.

I also take a daily, low dose of aspirin, but I believe that is for another condition.

Don't know about your daughter, but after numerous blood tests, it was almost surreal to find out that extra vitamins were what would help me.


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Old 04-27-2013, 09:54 AM
  #11

Thanks to all who've replied!! I was hesitant to post, especially in that the abbreviation makes it look rather profane, but knew if there was information, PT'er's would share.

I so appreciate the links, the anecdotal histories, and the support group. I will share all this with my daughter, TODAY!!

She is under the care of reproductive OB's, I know there is a better name for that. The doc she is now seeing, the one who found the mutation, seems to be very knowledgeable. Yes, she is now going to take MEGA doses of folic acid. She'll start heparin, when she becomes pregnant, and continue it up until full-term. She teaches, so all of your prayers will be coveted. She is one year in to a new school. Praying that all the extra doc trips, 2 hours away, labwork, etc., can be part of her on-going employment. They are so fortunate that insurance will cover present needs.

Again, when I have a question...I often go to ProTeacher BEFORE Google!! The support on these boards is beyond exceptional.

Thanks, thanks again!


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Old 04-27-2013, 04:56 PM
  #12

Too much clotting power caught my attention. A friend of mine has a daughter who had to take blood thinners during pregnancy but normally doesn't have to take them. She had one miscarriage prior to that pregnancy. Don't know if its the same thing, but it could be! She delivered a healthy little girl!

Nancy
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